Varaico: Literature-Extracted Genetic Variants

EPHA4

232 papers

RefSeq Summary

This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nerv...

Pfam Domains

Ephrin_lbdaa 31–204UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 205–262UCSCEphrin cysteine rich domain

fn3aa 328–431UCSCFibronectin type III domain

fn3aa 439–531UCSCFibronectin type III domain

EphA2_TMaa 549–618UCSCEphrin type-A receptor 2 transmembrane domain

PK_Tyr_Ser-Thraa 621–878UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

EPH receptor A4

HGNC Previous Symbol

TYRO1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004438.5

p.W253*

c.759G>A

Surrounding Variants

1 paper

NM_004438.5

p.L254R

c.761T>G

1 paper

NM_004438.5

p.L254Q

c.761T>A

1 paper

NM_004438.5

p.G251A

c.752G>C

1 paper

NM_004438.5

p.P256L

c.767C>T

1 paper

NM_004438.5

p.C247R

c.739T>C

1 paper

NM_004438.5

p.Y246S

c.737A>C

1 paper

NM_004438.5

p.P243P

c.729A>G

1 paper

NM_004438.5

p.V255_E267delFs

c.765_799del35

1 paper

NM_004438.5

p.S237S

c.711A>C

1 paper

NM_004438.5

p.G271R

c.811G>C

1 paper

NM_004438.5

p.G271R

c.811G>A

1 paper

NM_004438.5

p.A275T

c.823G>A